伴结节性硬化症的双肾多发性血管平滑肌脂肪瘤(附四例报告)

目的 探讨伴结节性硬化症的肾血管平滑肌脂肪瘤(AML)的临床诊治特点。方法 报告4例结节性硬化症伴多发性双肾AML的临床诊治资料。男女各2例。年龄17～44岁。l例表现为典型“三联征”，3例有典型面部皮疹，2例有癫痫发作史，3例伴肝、脾、骨等多发肾外病灶，3例颅脑CT检查均发现典型的大脑钙化结节灶。结果 3例患者经CT检查确诊，l例CT检查未发现肿瘤内特异性脂肪密度组织，B超引导下穿刺活检确诊，因右肾肿瘤巨大行肾切除术。l例患者因肿瘤小且症状轻微行保守治疗，另2例肿瘤伴出血者经保守治疗症状好转，随访6～36个月，肿瘤大小无变化，无症状复发。结论 伴结节性硬化症的双肾占位即使CT检查未发现特异性脂肪密度也不能排除AML的可能，细针穿刺活检能够确诊并排除肾癌。治疗方案应根据双侧肾肿瘤大小、分布、发展情况及症状决定。

Bilateral multiple renal angiomyolipomas associated with tuberous sclerosis (report of 4 cases)

Objective To study the clinical features of renal angiomyolipomas with tuberous sclerosis and to improve the recognization of this disease. Methods The diagnosis and treatment of 4 cases of tuberous sclerosis with bilateral and multiple renal angiomyolipomas were reviewed.The age range was 17 to 44 years,two of them were men.One patient presented with the classic triad:facial angiofibroma,seizures,and mental retardation.Facial angiofibroma occurred in three and seizures were found in two,three patients showed multiple extrarenal organ involvement including liver,spleen and bone.Brain CT revealed classical calcified cortical tuber and(or) subependymal nodule in three cases. Results The diagnosis of renal angiomyolipomas in three cases was affirmed on CT scan.However,the giant renal angiomyolipomas in one case can not be diagnosed from renal CT scan which did not demonstrate characteristic fatty tissue whereas the diagonsis was confirmed by ultrasound-guided right renal tumor biopsy and subsequent right nephrectomy for the large leisions.Regular monitoring of one patient was adopted for his mild symptomatic small renal leisions,the other two with hemorrhage in renal angiomyolipomas were reluctant to aggressive treatment and underwent conservative therapy.Follow-up ranged 6 to 36 months, none had recurrent symptoms and no significant growth of renal lesions was observed. Conclusions CT may not be pathognomonic for renal angiomyolipomas associated with tuberous sclerosis,needle biopsy may be needed to exclude renal carcinoma.The choice of treatment is based on tumor size distribution pattern,progression,and associated symptoms.